Gen-Panel
Renale Ziliopathien, umfassende Diagnostik: ID376.00, 75 Gene
AHI1,
ANKS6,
ARL3,
ARL6,
ARL13B,
ARMC9,
B9D1,
B9D2,
BBIP1,
BBS1,
BBS2,
BBS4,
BBS5,
BBS7,
BBS9,
BBS10,
BBS12,
CC2D2A,
CEP41,
CEP83,
CEP104,
CEP120,
CEP164,
CEP290,
CFAP418,
CPLANE1,
CSPP1,
DCDC2,
FAM149B1,
GLIS2,
IFT27,
IFT74,
IFT172,
INPP5E,
INVS,
IQCB1,
KATNIP,
KIAA0586,
KIAA0753,
KIF7,
KIF14,
LZTFL1,
MAPKBP1,
MKKS,
MKS1,
NEK8,
NPHP1,
NPHP3,
NPHP4,
PDE6D,
PIBF1,
RPGRIP1L,
SDCCAG8,
SLC41A1,
SUFU,
TCTN1,
TCTN2,
TCTN3,
TMEM67,
TMEM107,
TMEM138,
TMEM216,
TMEM218,
TMEM231,
TMEM237,
TOGARAM1,
TRAF3IP1,
TRIM32,
TTC8,
TTC21B,
TXNDC15,
WDPCP,
WDR19,
XPNPEP3,
ZNF423
Inkludierte Phänotypen
Bardet-Biedl-Syndrom (BBS): 22 Gene
ARL6,
BBIP1,
BBS1,
BBS2,
BBS4,
BBS5,
BBS7,
BBS9,
BBS10,
BBS12,
CEP290,
CFAP418,
IFT27,
IFT74,
IFT172,
LZTFL1,
MKKS,
MKS1,
SDCCAG8,
TRIM32,
TTC8,
WDPCP
Joubert-Syndrom (JBTS): 40 Gene
AHI1,
ARL3,
ARL13B,
ARMC9,
B9D1,
B9D2,
CC2D2A,
CEP41,
CEP104,
CEP120,
CEP290,
CPLANE1,
CSPP1,
FAM149B1,
IFT74,
INPP5E,
KATNIP,
KIAA0586,
KIAA0753,
KIF7,
MKS1,
NPHP1,
OFD1,
PDE6D,
PIBF1,
RPGRIP1L,
SUFU,
TCTN1,
TCTN2,
TCTN3,
TMEM67,
TMEM107,
TMEM138,
TMEM216,
TMEM218,
TMEM231,
TMEM237,
TOGARAM1,
TTC21B,
ZNF423
Meckel-Syndrom (MKS): 14 Gene
B9D1,
B9D2,
CC2D2A,
CEP290,
KIF14,
MKS1,
NPHP3,
RPGRIP1L,
TCTN2,
TMEM67,
TMEM107,
TMEM216,
TMEM231,
TXNDC15
Nephronophthise (NPHP): 17 Gene
ANKS6,
CEP83,
CEP164,
DCDC2,
GLIS2,
INVS,
MAPKBP1,
NEK8,
NPHP1,
NPHP3,
NPHP4,
SLC41A1,
TMEM67,
TTC21B,
WDR19,
XPNPEP3,
ZNF423
Senior-Loken-Syndrom (SLSN): 8 Gene
CEP290,
IQCB1,
NPHP1,
NPHP3,
NPHP4,
SDCCAG8,
TRAF3IP1,
WDR19
HPO Terms
Nephronophthisis, Renal cyst, Renal fibrosis, Renal insufficiency, Chronic kidney disease, Renal dysplasia, Renal hypoplasia, Renal agenesis, Renal cortical cysts, Renal tubular dysfunction, Retinitis pigmentosa, Photoreceptor outer segment loss on macular OCT, Night blindness, Visual impairment, Ataxia, Gait disturbance, Seizure, Intellectual disability, Polydactyly, Hypotonia
